[Biotinidase deficiency: disease with mainly neurocutaneous manifestations responding to biotin].
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Biomedical subjects
Publications and source records attributed to M H Marandian.
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A 12 hour old newborn suffering from respiratory distress was found to have a well defined opaque mass in the right lung. The mass was well tolerated up the 33rd day of life when he developed acute respiratory distress, the upper respiratory tract being flooded with secretions. Chest X ray showed that the mass had disappeared and that there was a large cystic structure instead. A bronchogenic cyst was excised successfully from the right middle lobe. The early clinical manifestations of this bronchogenic cyst and the radiologic findings are discussed.
A boy suffering from recurrent episodes of acute encephalopathy and hepatic steatosis died at 40 months of age. The symptoms started when he was 13 months old and he appeared completely normal in the intervals. Pertinent biologic findings were as follows: slight labile hypoglycemia and hyperammonemia having no direct correlation with neurologic derangement, no elevation of ammonia levels in loading tests, complete failure to generate ketones and the absence of organic aciduria during a fast, normal plasma carnitine levels and normal activity of long and medium chain acyl-CoA-dehydrogenase in skin fibroblasts. Pertinent autopsy findings were marked steatosis of liver and renal tubular cells with many foamy histiocytes in bone marrow. An error in metabolic pathways, particularly a derangement in lipid metabolism, was considered.
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Flaccid paralysis with spinal cord compression led to discovery of Wilm's tumor with multiple subcutaneous and bone metastases in a 12 year-old child. Intraspinal seeding of Wilm's tumor by hematogenous route or direct extension is extremely rare and usually appears late in the course of therapy. Bone metastases are also rare and are frequently seen in the sarcomatous form of the tumor which involves the vertebral column and differential diagnosis with bone metastasizing renal tumor of childhood (BMRTC) should be considered.
Distal gangrene associated with arterial hypertension but without systemic manifestations or muco-cutaneous eruptions was noted in a 5 years old child. Gangrene first appeared in toes and then in fingers. Progression in a 7 months period led to bilateral midleg amputation and amputation of several fingers. Angiography revealed complete obliteration of popliteal and humeral arteries by thrombi and histologic examination of amputated material showed organized thrombi with phlebothrombosis and without vasculitis. Biopsies of liver, lung, kidneys and skin were unremarkable and immunofluorescence studies with various antisera were negative. Also no contributing factor or etiologic agents were found, similarities to adult type Buerger's disease are striking. Vasodilators were of no help and bilateral lumbar and cervical sympathectomy could only demarcate the already present gangrene.
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The cerebral arterial occlusion was observed from nine patients aged from 2,5 to 12 years old, between 37 children with acute acquired hemiplegia. The thrombosis had an embolic origin in three cases of cardiopathy. Six patients had primary arterial occlusion, but all these patients were febrile and the onset of hemiplegia was accompanied by seizures in five cases. The site of arterial was demonstrated by the angiography in eight cases: cervical internal carotide in one case of cardiomyopathy, intracranial portion of the internal carotide in four cases, middle and anterior cerebral artery in three cases. The regression of hemiplegia was observed in all but one case of atrial myxoma. The autopsy of this patient revealed renal and hemispheric cerebral arterial thrombosis with myxoma embolus.
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A case of vascular purpura was observed in a 8 year-old girl. The clinical symptoms and pathological findings in kidneys and skin were compatible with Henoch-Schonlein syndrome. She presented with dyspnea and frequent acute pulmonary failure and the chest X-ray showed changing pulmonary infiltration. Despite treatment with corti-costeroids and cyclophosphamide, she died after 16 months. Pulmonary alveolar oedema, focal interstitial fibrosis and arterial fibrinoid thrombosis were found at autopsy. There was neither collagen lesion, nor fibrinoid necrosis.
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